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To address this gap, University Hospitals, Reference Services for Neonatal Screening, and Reference Services for Rare Diseases, all of which are public health institutions, established the Brazilian Rare Diseases Network (RARAS) in 2020. The objective of this study was to perform a comprehensive nationwide epidemiological investigation of individuals with RDs in Brazil. This retrospective survey collected data from patients receiving care in 34 healthcare facilities affiliated with RARAS in 2018 and 2019.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The survey included 12,530 participants with a median age of 15.0\u00a0years, with women representing 50.5% of the cohort. Classification according to skin color\u00a0demonstrated that 5044 (47.4%) participants\u00a0were admixed. Most had a confirmed diagnosis (63.2%), with a predominance of phenylketonuria (PKU), cystic fibrosis (CF), and acromegaly. Common clinical manifestations included global developmental delay and seizures. The average duration of the diagnostic odyssey was 5.4\u00a0years (\u00b1\u20097.9\u00a0years). Among\u00a0the confirmed diagnoses, 52.2% were etiological (biochemical: 42.5%; molecular: 30.9%), while 47.8% were clinical. Prenatal diagnoses accounted for 1.2%. Familial recurrence and consanguinity rates were 21.6% and 6.4%, respectively. Mainstay treatments included drug therapy (55.0%) and rehabilitation (15.6%). The Public Health System funded most diagnoses (84.2%) and treatments (86.7%). Hospitalizations were reported in 44.5% of cases, and the mortality rate was 1.5%, primarily\u00a0due to motor neuron disease and CF.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study marks a pioneering national-level data collection effort for rare diseases in Brazil, offering novel insights to advance the understanding, management, and resource allocation for RDs. It unveils an average diagnostic odyssey of 5.4\u00a0years and a higher prevalence of PKU and CF, possibly associated with the specialized services network, which included newborn screening services.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03392-7","type":"journal-article","created":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T09:54:52Z","timestamp":1730282092000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Epidemiological characterization of rare diseases in Brazil: A retrospective\u00a0study of the Brazilian Rare Diseases Network"],"prefix":"10.1186","volume":"19","author":[{"given":"Bibiana Mello","family":"de Oliveira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipe 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